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To err (meiotically) is human: the genesis of human aneuploidy.

Author information

Affiliations

  • 1. Department of Genetics, Case Western Reserve University, 10,900 Euclid Avenue, Cleveland, Ohio 44106, USA.
      Authors
    • Hassold T 1
    (1 author)

Nature reviews. Genetics, 01 Apr 2001, 2(4):280-291
https://doi.org/10.1038/35066065 PMID: 11283700 

Review

Abstract 

Aneuploidy (trisomy or monosomy) is the most commonly identified chromosome abnormality in humans, occurring in at least 5% of all clinically recognized pregnancies. Most aneuploid conceptuses perish in utero, which makes this the leading genetic cause of pregnancy loss. However, some aneuploid fetuses survive to term and, as a class, aneuploidy is the most common known cause of mental retardation. Despite the devastating clinical consequences of aneuploidy, relatively little is known of how trisomy and monosomy originate in humans. However, recent molecular and cytogenetic approaches are now beginning to shed light on the non-disjunctional processes that lead to aneuploidy.

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Read article at publisher's site: https://doi.org/10.1038/35066065

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